Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200924
rs786200924
ACO2
0.800 GeneticVariation UNIPROT Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951

2014
dbSNP: rs786200924
rs786200924
ACO2
0.800 GeneticVariation UNIPROT Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087

2012
dbSNP: rs786200924
rs786200924
ACO2
G 0.800 CausalMutation CLINVAR

dbSNP: rs786204828
rs786204828
ACO2
0.800 GeneticVariation UNIPROT

dbSNP: rs786204828
rs786204828
ACO2
A 0.800 CausalMutation CLINVAR

dbSNP: rs786204829
rs786204829
ACO2 ; POLR3H
0.800 GeneticVariation UNIPROT

dbSNP: rs786204829
rs786204829
ACO2 ; POLR3H
C 0.800 CausalMutation CLINVAR

dbSNP: rs1114167284
rs1114167284
ACO2 ; POLR3H
A 0.700 CausalMutation CLINVAR

dbSNP: rs375761361
rs375761361
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR

dbSNP: rs786204830
rs786204830
ACO2 ; POLR3H
T 0.700 CausalMutation CLINVAR

dbSNP: rs864309499
rs864309499
ACO2 ; POLR3H
T 0.700 GeneticVariation CLINVAR